SLC12A5, solute carrier family 12 member 5, 57468

N. diseases: 135; N. variants: 20
Disease: Fleck corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 Biomarker disease BEFREE Our study suggests that (1) "broad" GABAergic deficiency may reflect epileptic vulnerability outside the dysplastic area; and (2) abnormal distribution of KCC2 may contribute to seizure generation in patients with FCD type II but not in type I. 30856249 2019
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 AlteredExpression disease BEFREE KCC2 mRNA and protein were expressed not only in non-dysplastic neurons in histologically normal portions located in the periphery of the excised cortex, but also in dysplastic cells in FCD tissue. 21256718 2011